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TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35
OBJECTIVE: To investigate the pathogenicity of the TGM6 variant for spinocerebellar ataxia 35 (SCA35), which was previously reported to be caused by pathogenic mutations in the gene TGM6. METHODS: Neurologic assessment and brain MRI were performed to provide detailed description of the phenotype. Wh...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7188476/ https://www.ncbi.nlm.nih.gov/pubmed/32426513 http://dx.doi.org/10.1212/NXG.0000000000000424 |